PGAP2 (post-GPI attachment to proteins 2)

2003-02-01  

Identity

HGNC
LOCATION
11p15.4
LOCUSID
ALIAS
CWH43-N,FRAG1,HPMRS3,MRT17,MRT21
FUSION GENES

Other Information

Locus ID:

NCBI: 27315
MIM: 615187
HGNC: 17893
Ensembl: ENSG00000148985

Variants:

dbSNP: 27315
ClinVar: 27315
TCGA: ENSG00000148985
COSMIC: PGAP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148985ENST00000278243Q9UHJ9
ENSG00000148985ENST00000278243A0A024RCC6
ENSG00000148985ENST00000300730Q9UHJ9
ENSG00000148985ENST00000396986A8MYS5
ENSG00000148985ENST00000396991A0A0A0MS75
ENSG00000148985ENST00000396993A8MZF5
ENSG00000148985ENST00000459679H0YDJ5
ENSG00000148985ENST00000463452Q9UHJ9
ENSG00000148985ENST00000463452A0A024RCD5
ENSG00000148985ENST00000464229E9PKT0
ENSG00000148985ENST00000464261H0YDQ4
ENSG00000148985ENST00000464441A8MZF5
ENSG00000148985ENST00000464906Q9UHJ9
ENSG00000148985ENST00000464906A0A024RCC6
ENSG00000148985ENST00000465307B7Z2X5
ENSG00000148985ENST00000469307E9PQ19
ENSG00000148985ENST00000475884H0YCQ4
ENSG00000148985ENST00000477358H0YCQ4
ENSG00000148985ENST00000479072E9PKT0
ENSG00000148985ENST00000489571E9PRZ2
ENSG00000148985ENST00000490830H0YEE9
ENSG00000148985ENST00000493547Q9UHJ9
ENSG00000148985ENST00000496834A8MZF5
ENSG00000148985ENST00000524661E9PRZ2
ENSG00000148985ENST00000528216E9PRZ2
ENSG00000148985ENST00000532017E9PRZ2
ENSG00000148985ENST00000532523H0YDC6

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
235618472013PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.40
235618462013Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.36
291191052017A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers.1

Citation

Dessen P

PGAP2 (post-GPI attachment to proteins 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40638/pgap2